2024-03-29 IL36RN - NM_173170.1 Location Usual name protein name Sequence change Alteration N base(s) Base substituted Classification Status Using In silico prediction? Fonctional test Functional approach? Consequence Techniques used Disease related symptoms Associated phenotype Zygosity in this patient Inheritance in this patient Ancestry/origin Comment Input date References Other PMID Exon 2 V2F p.(Val2Phe) c.4G>T substitution 1 G>T Not classified UNKNOWN YES Unknown Mutant retains its first N-terminal methionine, the removal of which is necessary for antagonist activity Sequencing Sanger Symptomatic GPP Unknown Unknown / 2017-08-31 Publication (PubMed PMID): 28603914 Exon 2 R10X p.(Arg10*) c.28C>T substitution 1 C>T Not classified UNKNOWN YES Unknown Premature termination Sequencing Sanger Symptomatic DITRA Unknown Unknown Japan/Asian The mutation was also observed in the heterozygous state, in the absence of a second disease allele. 2012-05-21 Publication (PubMed PMID): 22428995 Exon 3 S14X p.(Ser14X) c.41C>A substitution 1 C>A Not classified UNKNOWN YES Unknown Premature termination Sequencing Sanger Symptomatic GPP Unknown Unknown Algeria/ 2017-08-31 Publication (PubMed PMID): 27220475 Exon 3 L21P p.(Leu21Pro) c.62T>C substitution 1 T>C Not classified UNKNOWN NO Sequencing Sanger Symptomatic DITRA Unknown Unknown Pakistan/ 2015-02-18 Publication (PubMed PMID): 25688670 Exon 3 L27P p.(Leu27Pro) c.80T>C substitution 1 C>T Not classified UNKNOWN YES Unknown Non-conservative amino acid substitution Sequencing Sanger Symptomatic Non symptomatic DITRA Acute generalised exanthematous pustulosis Unknown Unknown Tunisia/Maghrebian The mutation is recessive. In asymptomatic individuals it is observed in heterozygosity. 2012-05-21 Publication (PubMed PMID): 21848462 Exon 3 H32R p.(His32Arg) c.95A>G substitution 1 A>G Not classified UNKNOWN NO Sequencing Sanger Symptomatic DITRA Unknown Unknown Iraq/Arab 2013-06-14 Publication (PubMed PMID): 23648549 Exon 3 K35R p.(Lys35Arg) c.104A>G substitution 1 A>G Not classified UNKNOWN NO Non-synonymous amino acid substitution Sequencing Sanger Symptomatic DITRA Unknown Unknown United kingdom/Caucasian No control chromosomes analysed but the SNP has a minor allele frequency < 0.01 in Caucasians 2013-03-21 Publication (PubMed PMID): 23303454 Intron 3 c.115+6T>C p.(Arg10Argfs*1) c.115+6T>C substitution 1 C>T Not classified UNKNOWN YES Unknown Premature termination Sequencing Sanger Symptomatic DITRA Unknown Unknown Japan/Asian The mutation was also observed in the heterozygous state, in the absence of a second disease allele. 2012-08-23 Publication (PubMed PMID): 22903787 Exon 4 I42N p.(Ile42Asn) c.125T>A substitution 1 T>A Not classified UNKNOWN YES Unknown Unknown Sequencing NGS Symptomatic DITRA Unknown Unknown Japan/ Variant only seen once in Exac 2016-12-21 Publication (PubMed PMID): 27802907 Exon 4 V44M p.(Val44Met) c.130G>A substitution 1 G>A Not classified UNKNOWN NO Sequencing Sanger Unknown DITRA Unknown Unknown / 2020-01-28 Publication (PubMed PMID): 30036598 Exon 4 P46S p.(Pro46Ser) c.136C>T substitution 1 C>T Likely pathogenic UNKNOWN NO Sequencing NGS Unknown Undefined-AID Unknown Unknown Cote d'ivoire/African 2019-05-13 Lefevre-Utile A Rittore C Imbert-Bouteille M Sarrabay G Touitou I Personal communication Exon 4 N47S p.(Asn47Ser) c.140A>G substitution 1 A>G Not classified UNKNOWN NO Sequencing Sanger Symptomatic Non symptomatic DITRA Unknown Unknown China/Asian The variant has very similar frequencies (MAF > 0.03) in cases and controls. It is likely to be a polymorphism. 2013-08-19 Publication (PubMed PMID): 23863864 Exon 4 R48W p.(Arg48Trp) c.142C>T substitution 1 C>T Not classified UNKNOWN NO Non-conservative amino acid substitution Sequencing Sanger Symptomatic Non symptomatic DITRA Also seen in Acute Generalised Exanthematous Pustulosis Unknown Unknown United kingdom/Caucasian The mutation is recessive. 2012-05-21 Publication (PubMed PMID): 21839423 Exon 4 G48Q p.(Arg48Gln) c.143G>A substitution 1 G>A Likely pathogenic YES NO Sequencing NGS Symptomatic DITRA Heterozygous Inherited from an asymptomatic parent / 2021-05-27 Publication (PubMed PMID): 33729564 Exon 4 V57I p.(Val57Ile) c.169G>A substitution 1 G>A Likely benign UNKNOWN NO Sequencing Sanger Symptomatic Non symptomatic palmoplantar pustulosis Unknown Unknown Japan/Asian 2020-01-28 Publication (PubMed PMID): 31789248 25212972 Exon 4 C67F p.(Cys67Phe) c.200G>T substitution 1 G>T Not classified UNKNOWN UNKNOWN Unknown Symptomatic DITRA Unknown Unknown Colombia/ 2019-04-17 Publication (PubMed PMID): 30953287 Exon 4 P76L p.(Pro76Leu) c.227C>T substitution 1 C>T Not classified UNKNOWN NO Sequencing Sanger Symptomatic DITRA Unknown Unknown Germany/Caucasian 2013-06-14 Publication (PubMed PMID): 23648549 33543522 Exon 5 P82L p.(Pro82Leu) c.245C>T substitution 1 C>T Not classified UNKNOWN NO Sequencing Sanger Symptomatic DITRA Heterozygous Unknown China/Asian 2021-08-26 Publication (PubMed PMID): 25212972 Exon 5 M86I p.(Met86Ile) c.258G>A substitution 1 G>A Likely benign UNKNOWN NO Sequencing Sanger Symptomatic Non symptomatic palmoplantar pustulosis Unknown Unknown Japan/Asian 2020-01-28 Publication (PubMed PMID): 31789248 Exon 5 E94X p.(Glu94*) c.280G>T substitution 1 G>T Not classified UNKNOWN NO Premature termination Sequencing Sanger Symptomatic DITRA Unknown Unknown Germany/Caucasian 2013-06-14 Publication (PubMed PMID): 23648549 Exon 5 T99_F100del p.(Thr99_Phe100del) c.295_300delACCTTC deletion 6 ACCTTC Likely pathogenic YES NO Sequencing Sanger Symptomatic DITRA Unknown Unknown Germany/ 2020-08-28 Publication (PubMed PMID): 28887889 Exon 5 R102W p.(Arg102Trp) c.304C>T substitution 1 C>T Not classified UNKNOWN NO Non-synonymous aminoacid substitution Sequencing Sanger Symptomatic DITRA Mutation observed in a patient with Acrodermatitis Continua of Hallopeau, who also carried p.Ser113Leu Unknown Unknown United kingdom/Caucasian No control chromosomes analysed, but the SNP has a minor allele frequency < 0.01 in Caucasians 2013-03-21 Publication (PubMed PMID): 23303454 Exon 5 R102Q p.(Arg102Gln) c.305G>A substitution 1 G>A Not classified UNKNOWN UNKNOWN Sequencing Sanger Symptomatic GPP Unknown Unknown China/ 2013-12-23 Publication (PubMed PMID): 23863864 Exon 5 R103Q p.(Arg103Gln) c.308G>A substitution 1 G>A Uncertain significance (VUS) YES NO Sequencing Sanger Symptomatic DITRA Unknown Unknown Germany/ 2020-08-28 Publication (PubMed PMID): 28887889 Exon 5 E112K p.(Glu112Lys) c.334G>A substitution 1 G>A Not classified UNKNOWN NO Sequencing Sanger Symptomatic DITRA Unknown Unknown Japan/Asian 2015-03-18 Publication (PubMed PMID): 25468355 Exon 5 S113L p.(Ser113Leu) c.338C>T substitution 1 C>T Not classified UNKNOWN YES Unknown Non-conservative amino acid substitution Sequencing Sanger Symptomatic Non symptomatic DITRA Also seen in Palmar-plantar pustulosis, Acrodermatitis Continua of Hallopeau, Acute Generalised Exanthematous Pustulosis. Unknown Unknown United kingdom/Caucasian The mutation was also observed in the heterozygous state, in the absence of a second disease allele. 2012-05-21 Publication (PubMed PMID): 21839423 Exon 5 S113X p.(Ser113*) c.338C>A substitution 1 C>A Likely pathogenic NO NO Sequencing Sanger Symptomatic DITRA Unknown Unknown Russian federation/ 2020-08-28 Publication (PubMed PMID): 28887889 Exon 5 T123R p.(Thr123Arg) c.368C>G substitution 1 C>G Not classified UNKNOWN YES Unknown non-synonymous substitution Sequencing Sanger Symptomatic DITRA Unknown Unknown Japan/Asian The mutation destroys a BaeGI restriction site 2012-08-23 Publication (PubMed PMID): 22903787 Exon 5 T123M p.(Thr123Met) c.368C>T substitution 1 C>T Not classified UNKNOWN NO Sequencing Sanger Symptomatic DITRA Unknown Unknown Japan/Asian 2013-06-03 Publication (PubMed PMID): 23834760 Exon 5 G141Mfs*29 p.(Gly141Metfs*29) c.420_426del deletion 7 TGGCTGG Not classified UNKNOWN NO Sequencing Sanger Symptomatic DITRA Unknown Unknown Spain/Caucasian 2013-07-01 J. I. Arostegui M. A. Vicente-Villa A. Chaves E. Gonzalez-Roca E. Ruiz-Ortiz J. Rius S. Plaza M. A. Gonzalez-Ensenat J. Yague Congress abstract:Autoinflammation 2013, Lausanne, Switzerland, 22-26 May 2013 Exon 5 I146V p.(Ile146Val) c.436A>G substitution 1 A>G Uncertain significance (VUS) UNKNOWN NO Sequencing NGS Unknown PAAD-FMF (with criteria) Unknown Unknown France/ MEFV (NM_000243): c.2082G>A p.Met694Ile 2019-05-13 Caillo L Rittore C Sarrabay G Touitou I Personal communication 3UT *43G>A p.? c.*43G>A substitution 1 G>A Not classified UNKNOWN NO Sequencing NGS Unknown Recurrent fever Unknown Unknown France/Maghreb/France/Maghreb 2019-05-13 Pillet P Dumont B Sarrabay G Touitou I Personal communication